A genome-wide association meta-analysis of all-cause and vascular dementia.
A recent study identified several putative genetic variants and biological pathways associated with all-cause of dementia and vascular dementia and added additional support for the involvement of vascular mechanisms in dementia pathogenesis.
The authors conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors.
The results showef that for ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonance imaging markers of small vessel disease (SVD; HBEGF). Novel VaD loci were associated with hypertension, diabetes, and neuron maintenance (SPRY2, FOXA2, AJAP1, and PSMA3).
The study identified genetic risks underlying ACD, demonstrating overlap with neurodegenerative processes, vascular risk factors, and cerebral SVD.
https://alz-journals.onlinelibrary.wiley.com/doi/10.1002/alz.14115